Laura Fernandez-Martin

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 18 publications

Unveiling the genetic landscape of inherited primary hemostasis disorders by whole-exome sequencing: insights from a multi-center study.

Unveiling the genetic landscape of inherited primary hemostasis disorders by whole-exome sequencing: insights from a multi-center study.

Journal: Thrombosis and haemostasis

Published: February 11, 2026

Unveiling the Genetic Landscape of Inherited Primary Hemostasis Disorders by Whole-Exome Sequencing: Insights from a Multicenter Study.

Unveiling the Genetic Landscape of Inherited Primary Hemostasis Disorders by Whole-Exome Sequencing: Insights from a Multicenter Study.

Journal: Thrombosis and haemostasis

Published: February 11, 2026

Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.

Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.

Journal: British journal of haematology

Published: August 12, 2025

Gene expression profiling of whole blood samples following marathon running in non-elite athletes.

Gene expression profiling of whole blood samples following marathon running in non-elite athletes.

Journal: Biology of sport

Published: July 25, 2025

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: March 10, 2025

Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease.

Increased Platelet Adhesiveness in Patients with Venous Thromboembolic Disease.

Journal: TH open : companion journal to thrombosis and haemostasis

Published: July 29, 2024

Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.

Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool.

Journal: Thrombosis and haemostasis

Published: December 29, 2023

Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.

Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: October 10, 2023

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

Journal: British journal of haematology

Published: June 08, 2023

Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Journal: Thrombosis and haemostasis

Published: January 25, 2023

Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.

Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.

Journal: Journal of thrombosis and haemostasis : JTH

Published: December 23, 2022

Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk.

Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk.

Journal: Thrombosis and haemostasis

Published: March 10, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026